Delleman Syndrome: Oculocerebrocutaneous Syndrome: A Case Report

Abstract

Delleman Oorthuys syndrome or oculocerebrocutaneous syndrome is a rare congenital disorder. It is sporadic. As the name suggests it involves integumenatry system, central nervous system and eyes. Here we present the case of a newborn male baby who presented with congenital hydrocephalous, left sided eyelid coloboma since birth along with other features of this syndrome. Goldenhar and Goltz syndrome may also present with similar features. There is need to diagnose this congenital anomaly as a separate entity for better management and prognosis of such children.

Keywords

• cystic eye
• delleman syndrome
• congenital hydrocephalous
• eyelid coloboma